IthaID: 352



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22 GGC>GGT new donor consensus HGVS Name: HBA2:c.69C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGGGTAAGGTCGGCGCGCACGCTGG [C/T] GAGTATGGTGCGGAGGCCCTGGAGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33844
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Cryptic splice site (mRNA Processing)
Ethnic Origin: Surinamese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL, Giordano PC, An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene., Hemoglobin, 28(3), 255-9, 2004 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2017-09-28 18:30:08 (Show full history)

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